By Luke Rosen
Originally published March 8, 2018

A few months ago I was invited to speak to a group of medical students about KIF1A and how our daughter was finally diagnosed with such a rare condition. We talked about the difficulty of accessing appropriate genetic testing, and the delay in receiving results. A student asked me if we had a positive experience with our medical team. Just as I was about to answer, the phone rang and I had to run off, leaving the important question unanswered. Below is an email I sent to the student the next day.


Hi Tom,

Thanks for including me in your busy schedule yesterday. A phone call and my rambling distracted from a question you asked — what was the beginning of an important dialogue. Sorry to have cut it short. I just had a few thoughts that I wanted to relay.

I talked a bit about the difficult experience we had in the very beginning with hospital administration and getting our test results. That was tough, but really not my concern; nobody had bad intentions. The problem wasn’t one person or a team of people — the problem was communication and policy, something I’m far less interested in. It’s a battle that won’t cure my daughter and a fight not worth picking. You see, at the end of the day, it’s one doctor who we call on. Our daughter has a fleet of specialists weighing in on every aspect of her care, but ultimately it’s one physician who we trust emphatically, and who answers the phone when we call. Every patient relies on a physician’s advice in the most stressful moments, those seconds when stakes are so high and panic floods every ounce of our bodies. Every parent needs that rock, that reliable person with years of training in their corner — but few patients have a doctor with the clinical and human skill set that is so vital in delivering life-altering news to parents like Sally and me. And that doctor, that friend, is in it for the lifecycle of our daughter’s disease. She’s on a mission to help us, and it started with the elevator.

I realized early that in order to facilitate the discovery of treatment for Susannah, we need to build a community and find more patients. Our priority became getting kids access to genetic testing, thereby accomplishing two goals: building the patient group for physicians and scientists to study Susannah’s disease, and ending a painful diagnostic odyssey for other families. So don’t be fooled, my advocacy has a selfish impetus — getting everybody access to unavailable genetic testing. This will eventually be the key to understanding this mysterious gene and developing a strategy to deal with the mutation that is causing progressive loss of brain function for Susannah.

I mentioned that difficult morning and the experience we had — the elevator door opening at Columbia, and how my wife and I were immediately surrounded by supportive counselors, social workers and a doctor who changed our lives, a doctor who will find treatment for Susannah.  I realize now that it wasn’t just having those people waiting when the elevator door opened that saved Sally and me that morning. It was a few hours later, after the doctor told us about Susannah’s disease and after our lives changed forever. It was actually the elevator ride out of the hospital that made all the difference in the world.

Dr. Chung didn’t say goodbye in her office and send us on our way, a farewell so many devastated parents experience. She brought us through the lobby, rode the elevator down with us and walked us outside. That was a gift. Guiding us out of the hospital and into a taxi with a hug was beyond measure. Walking out of the hospital, unable to breathe because of the realization that I will never dance with my daughter at her wedding would have been even more shattering somehow if Susannah’s new champion wasn’t right next to us from day one.

So my answer to your question is that it’s all about the elevator, I guess. Who is there when it opens on the hardest day of your life, and who takes it down with you a few hours later is what matters. We know our doctor will be there for us from the diagnosis all the way through clinical trial and treatment — whenever that might be, and I know it could be a long time from now.

I guess I’m telling you all of this because in starting our foundation and seeking out other KIF1A families to grow our community, I hear stories about parents who don’t have the remarkable care we have — who didn’t have that elevator. These families are left alone with a phone call explaining a disease with no name and a website to reference. It took some of these families years to get a diagnosis, and when they finally did, they were left uninformed and unprepared.

I’ve realized it’s not about the institutional review boards (IRBs) and debates about data ownership, it’s about getting kids access to the tests they need and having a clinical geneticist who rides the elevator with you.

I’m far from a physician or a scientist, and I’m sure you’ve heard all this before, but I thought your question deserved a better answer than the one I gave you yesterday: yes, we had a positive experience with our medical team. The problem with healthcare today is that our diagnostic experience is an anomaly. It is so far from industry standard to care deeply for a patient, to transcend the clinic, into the elevator and onto the street. If more doctors rode the elevator with their patients, maybe walking out of the hospital on the worst day of your life, into a new world with an unthinkable reality might be a little easier.

Thanks for reading, thanks for your time.

As ever,

Luke Rosen

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